1. Panels
  2. Monogenic diabetes
  3. BSCL2
STRs in panel
Prev Next

Monogenic diabetes

Gene: BSCL2

No list
BSCL2 (BSCL2, seipin lipid droplet biogenesis associated)
EnsemblGeneIds (GRCh38): ENSG00000168000
EnsemblGeneIds (GRCh37): ENSG00000168000
OMIM: 606158, Gene2Phenotype
BSCL2 is in 15 panels

3 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Gene changed to grey status after consultation with Professor Sian Ellard (South West GLH) that this gene is not appropriate for the panel.
Created: 25 Jan 2019, 11:49 a.m.
Created: 25 Jan 2019, 11:49 a.m.

Panel version: 0.11

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: Imported from Familial diabetes panel version 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene added to the panel due to expert review.
Created: 15 Jun 2016, 3:29 p.m.
Created: 15 Jun 2016, 3:29 p.m.

Panel version: Imported from Familial diabetes panel version 0.103

History Filter Activity

28 Jul 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: BSCL2 were changed from Berardinelli-Seip congenital lipodystrophy; Lipodystrophy, congenital generalized, type 2, 269700 to Lipodystrophy, congenital generalized, type 2, OMIM:269700

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: BSCL2.

30 Jan 2019, Gel status: 0

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Gene changed to grey status af

25 Jan 2019, Gel status: 0

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Removed was added to BSCL2. Rating Changed from Green List (high evidence) to No List (delete)

18 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Lipodystrophy, congenital generalized, type 2, 269700 for gene: BSCL2

18 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Berardinelli-Seip congenital lipodystrophy for gene: BSCL2

18 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: BSCL2 was added gene: BSCL2 was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BSCL2 were set to 11479539 Phenotypes for gene: BSCL2 were set to Berardinelli-Seip congenital lipodystrophy